DisGeNET - a database of gene-disease associations

List of associated variants

Creatine phosphokinase serum increased, C0241005

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs1208636573	MSTO1 ; LOC105371452	0.807	0.120	1	155612098	stop gained	C/G;T	snv	4.0E-06; 4.0E-06		15
rs622288	MSTO1 ; LOC105371452	0.807	0.120	1	155612848	missense variant	C/T	snv	3.6E-05	4.2E-05	15
rs201518227	TOR1AIP1	1.000		1	179917914	missense variant	C/T	snv	3.2E-05	5.6E-05	13
rs137854521	ANO5	0.851	0.200	11	22221100	frameshift variant	-/A	delins			9
rs104894080	GDAP1	0.790	0.120	8	74364005	missense variant	C/T	snv	3.2E-05	4.2E-05	9
rs914586984	LOC105371858 ; SCN4A	1.000	0.120	17	63959275	missense variant	G/C;T	snv			9
rs201892814	CAPN3	1.000	0.040	15	42403721	intron variant	C/G	snv	3.1E-03; 2.4E-05	3.1E-03	8
rs886039785	DMD	0.925	0.120	X	31496876	stop gained	C/T	snv			7
rs116840778	SSUH2 ; CAV3	0.882	0.200	3	8733956	missense variant	G/A;C	snv			7
rs757917335	DYSF	1.000	0.120	2	71611481	missense variant	T/C	snv	2.0E-05		6
rs116840789	SSUH2 ; CAV3	0.925	0.080	3	8745547	missense variant	G/A;T	snv			6
rs375014127	ANO5	1.000	0.120	11	22262162	missense variant	G/A;T	snv	4.0E-06; 6.8E-05		5
rs1131692158	DYSF	1.000	0.120	2	71669207	missense variant	G/A;C	snv			5
rs1553521119	DYSF	0.925	0.120	2	71513892	frameshift variant	C/-	del			5
rs770905160	DYSF	0.882	0.120	2	71656236	stop gained	C/G;T	snv	1.2E-05		5
rs202247792	LAMA2	0.925	0.120	6	129486605	missense variant	T/C;G	snv	8.0E-06		5
rs1555452876	PKD1 ; MIR6511B1	1.000		16	2106222	inframe deletion	CTC/-	delins			5
rs143570936	SGCA	0.925	0.200	17	50169246	missense variant	G/A	snv	1.1E-04	1.8E-04	5
rs1553846331	DOK7	0.925	0.120	4	3473504	missense variant	C/T	snv			4
rs756015202	DOK7	0.925	0.120	4	3493047	missense variant	C/T	snv	5.5E-06		4